Fatigue, anorexia and involuntary weight loss have been included under the term constitutional syndrome. These manifestations accompany many diseases in which the diagnosis is made by specific symptoms and signs. However, these events are generally the main reason for consultation and the patient does not report other specific data. This forces us to rigorously investigate the possible causes of the disorder. Usually, three manifestations coexist: asthenia, anorexia and weight loss, but sometimes the patient has only one or two of them. The causes of constitutional symptoms are varied and can be divided into three groups: psychiatric diseases, neoplasms and non-neoplastic diseases. The etiological identification is usually done with a simple protocol, which rules out malignancy; the rest of the cases of uncertain etiology are subject to evolution. The constitutional syndrome correlates well with good prognosis or medical functional processes. Although no clinical guidelines have been developed, score scales may help for the etiological assessment. Given the myriad of different causes of the constitutional syndrome, the treatment of this illness depends primarily on the etiology.
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Zhongguo Zhong Yao Za Zhi
December 2024
Guang'anmen Hospital, China Academy of Chinese Medical Sciences Beijing 100053, China.
The prevalence of cardiovascular diseases in China has shown a rising trend. With the patient number of about 8.9 million, heart failure has brought a heavy burden to public health and wellness.
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Centro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.
View Article and Find Full Text PDFEur J Microbiol Immunol (Bp)
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1Department of Infectious Diseases, John Hunter Hospital, New Lambton Heights, NSW 2305, Australia.
Interferon-gamma (IFN-γ) autoantibody syndrome is an emerging clinical entity that has been associated with disseminated non-tuberculous mycobacterial infection (dNTM) particularly in healthy young people, a population not previously thought to be at particular risk. A 29-year-old South-East Asian man presented with several weeks of fever, cough, lymphadenopathy, and constitutional symptoms while working on an international cargo ship, deteriorating rapidly with a sepsis-like syndrome. Eventually lymph node and sputum cultures revealed a diagnosis of dNTM infection with growth of both Mycobacterium persicum and Mycobacterium abscessus.
View Article and Find Full Text PDFJ Med Cases
January 2025
Department of Clinical Sciences, Malmo, Lund University, Malmo, Sweden.
Immunocompromised patients, especially those receiving B-cell depleting therapies, are at risk for developing atypical presentation with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, with the potential for diagnostic delay and adverse outcomes if such delay occurs. A 66-year-old female with history of granulomatosis with polyangiitis (GPA) with previous pulmonary involvement, treated with rituximab and low-dose prednisolone, presented with prolonged fever and cough after having been treated at home for a mild SARS-CoV-2 infection in early July 2023. The patient had a prolonged course over several months with constitutional symptoms such as fever, cough and malaise.
View Article and Find Full Text PDFClin Epigenetics
December 2024
Hereditary Cancer Group, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Spain.
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
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